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Benign and pathological chromosomal imbalances: Microscopic and Submicroscopic Copy Number Variations (CNVs) in Genetics and Counseling

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Benign and Pathological Chromosomal Imbalances: Microscopic and Submicroscopic Copy Number Variations (Cnvs) in Genetics and Counseling - Liehr, Thomas
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Benign & Pathological Chromosomal Imbalances systematically clarifies the disease implications of cytogenetically visible copy number variants (CG-CNV) using cytogenetic assessment of heterochromatic or euchromatic DNA variants. While variants of several megabasepair can be present in the human genome without clinical consequence, visually distinguishing these benign areas from disease implications does not always occur to practitioners accustomed to costly molecular profiling methods such as FISH, aCGH, and NGS. As ...

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Benign and Pathological Chromosomal Imbalances: Microscopic and Submicroscopic Copy Number Variations (Cnvs) in Genetics and Counseling 2013, Academic Press

ISBN-13: 9780124046313

Hardcover